title: Exome sequencing deciphers rare diseases.
abstract: Two years ago, NIH's Undiagnosed Diseases Program began delivering genomics to the clinic on an unprecedented scale. Now, with 128 exomes sequenced and 39 rare diseases diagnosed, the program's success is paving the way for widespread personal genomics while pioneering new techniques for reigning in the "tsunami" of genomics data.
authors.forename: Amy
authors.initials: A
authors.lastname: Maxmen
mesh_terms: D005091:Exons; D005190:Family; D020869:Gene Expression Profiling; D015894:Genome, Human; D006801:Humans; D008297:Male; D025202:Molecular Diagnostic Techniques; D009316:National Institutes of Health (U.S.); D035583:Rare Diseases / Q000175:diagnosis*; D017422:Sequence Analysis, DNA / Q000191:economics / Q000379:methods* / Q000639:trends; D014481:United States